Varaico: Literature-Extracted Genetic Variants

Gene:MTHFS

MTHFS

45 papers

RefSeq Summary

The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism...

Pfam Domains

5-FTHF_cyc-ligaa 10–198UCSC5-formyltetrahydrofolate cyclo-ligase family

Gene Aliases

HGNC Name

methenyltetrahydrofolate synthetase

HGNC Alias Symbol

HsT19268

Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
6 papers
NM_006441.4
p.T202A
c.604A>G
5 papers
NM_006441.4
p.R145Q
c.434G>A
4 papers
NM_006441.4
p.G127Splc
c.380-1411T>G
2 papers
NM_006441.4
p.L36P
c.107T>C
2 papers
NM_006441.4
p.S49T
c.145T>A
1 paper
NM_006441.4
p.A4_A9insFs
c.10_25dup16
1 paper
NM_006441.4
p.V6_A9delFs
c.18_27del10
1 paper
NM_006441.4
p.R14W
c.40C>T
1 paper
NM_006441.4
p.K18_E27del10
c.52_80del30
1 paper
NM_006441.4
p.Q32*
c.94C>T
1 paper
NM_006441.4
p.R34L
c.101G>T
1 paper
NM_006441.4
p.V35G
c.104T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."